Publications:

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Neurology

Tan, Rhea Y Y RYY; Traylor, Matthew M; Megy, Karyn K; Duarte, Daniel D; Deevi, Sri V V SVV; Shamardina, Olga O; Mapeta, Rutendo P RP; , ; Ouwehand, Willem H WH; Gräf, Stefan S; Downes, Kate K; Markus, Hugh S HS

Publication Date: 2019-11-26

Variant appearance in text: ITM2B: 92C>G; Pro31Arg; rs150336652

PubMed Link: 31719132

Variant Present in the following documents:

• NEUROLOGY2019966051.pdf

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: rs150336652

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page